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To examine the inter-rater reliability and stability of autism spectrum disorder (ASD) diagnoses made at a very early age in children identified through a screening procedure around 14 months of age. In a prospective design, preschoolers were recruited from a screening study for ASD. The inter-rater reliability of the diagnosis of ASD was measured...
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Context 1
... descriptive data for the remaining 131 children at t1 are reported in Table 3 by diagnostic category. Forty children were classified as having an autistic disorder by clinical judgement; 13 as having PDD-NOS, 20 as having an intellectual disability, without an ASD, 28 as having an expressive language disorder, 6 as having a mixed recep- tive-expressive language disorder, 7 as having ADHD, and 4 as having other axis I diagnoses of the DSM-IV-TR (i.e. ...
Context 2
... addition, children with PDD-NOS had a significantly lower cogni- tive score than children with ADHD and other axis I diagnoses (all P \ 0.02). Ten children cognitively evalu- ated with the MSEL received the lowest possible score on the instrument and received a cognitive score of 49 (see Table 3). To correct for a possible floor effect, the one-way ANOVA for cognitive score was repeated without these ten children. ...
Context 3
... descriptive data for the 131 children at t2 are reported in Table 3 by diagnostic category. Twenty-six children were classified as having an autistic disorder by clinical judge- ment, 22 as having PDD-NOS, 13 as having an intellectual disability without an ASD, 6 as having an expressive lan- guage disorder, 8 as having a mixed receptive-expressive language disorder, 16 as having a phonological disorder, 2 as having another developmental disorder (developmental coordination disorder), 7 as having ADHD, 3 as having other axis I problems of the DSM-IV-TR (i.e. 2 as having a parent- child relational problem; 1 as having selective mutism); 28 were not classified according to the DSM-IV-TR. ...
Similar publications
Pervasive developmental disorders are a group of neurodevelopmental disorders characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. The term autism spectrum disorders (ASD) has been used to describe their variable presentation. Although the cause of these disorders is not yet...
A new screening instrument for ASD was developed that can be filled out by child care workers: the Checklist for Early Signs of Developmental Disorders (CESDD). The predictive validity of the CESDD was evaluated in a population of 6,808 children between 3 and 39 months attending day-care centres in Flanders. The CESDD had a sensitivity of .80 and a...
Purpose:
To verify if there are characteristic behaviors of the different diagnosis included in the autism spectrum according to the Differential Assessment of Autism and Other Developmental Disorders (DAADD) and to the Autism Behavior Checklist (ABC).
Method:
Participants were 45 individuals and their respective speech-language therapists. All...
Background:
In 2012, we published an overview of the prevalence of developmental disorders and neurological diseases in children in Norway, which was unknown at the time. In this article we will compare diagnostics and treatment across counties and institutions.
Material and method:
The prevalence across counties of autism spectrum disorders, AD...
IntroductionThis special issue of the Journal of Autism and Developmental Disorders focuses on the contributions of psychophysiological research to scientific understanding of autism spectrum disorder (ASD). The past decade has brought considerable advances in the application of psychophysiology for examining mechanisms of function and dysfunction...
Citations
... Reasons for this increase include improved diagnostic levels, increased awareness, and a detailed definition of the disorder (Neggers, 2014). Regardless of the prevalence of autism spectrum, early diagnosis is important for the child and family to benefit from therapeuticeducational interventions and support systems (Van Daalen et al., 2009). As age increases, not only do costs increase, but the treatment process also becomes more difficult (Rey et al., 2019). ...
Objective: The current research was conducted with the aim of studying and investigating the role of tests and tools in the accurate diagnosis of autism spectrum disorders. Methods: A total of 83 children (56 boys and 27 girls) diagnosed with autism or one of the comorbid diagnoses were selected and underwent the GARS-3 scale and the Psycho-Educational Profile Revised (PEP-3) diagnostic test. Additionally, parents were asked to complete a checklist provided by the researcher. The age range of the individuals with autism was between 2 and 7 years, with an average age of 6.5 years. Findings: The results of the statistical analyses of the data from this study indicated a significant role of diagnosis tools. Conclusion: So, the proper and timely use of diagnostic tests plays a significant role in the accurate diagnosis of autism spectrum disorders and also in determining the severity of these disorders.
... While several studies demonstrate stability of a clinical diagnosis of autism in young children (≤3 years) (Giserman-Kiss & Carter, 2020;Guthrie et al., 2013;van Daalen et al., 2009), autism symptoms can emerge over time and diagnoses may be made at later ages (Ozonoff et al., 2018). Recent findings have demonstrated differing developmental trajectories in autism, with the presence of both emerging and attenuating behaviors over time, and evidence for improved sensitivity and specificity of autism diagnosis >5 years (Landa et al., 2022). ...
Evidence suggests core autism trait consistency in older children, but development of these traits is variable in early childhood. The Social Responsiveness Scale (SRS) measures autism‐related traits and broader autism phenotype, with two age‐dependent forms in childhood (preschool, 2.5–4.5 years; school age, 4–18 years). Score consistency has been observed within forms, though reliability across forms has not been evaluated. Using data from the Environmental Influences on Child Health Outcomes (ECHO) program (n = 853), preschool, and school‐age SRS scores were collected via maternal report when children were an average of 3.0 and 5.8 years, respectively. We compared reproducibility of SRS total scores (T‐scores) and agreement above a clinically meaningful cutoff (T‐scores ≥ 60) and examined predictors of discordance in cutoff scores across forms. Participant scores across forms were similar (mean difference: 3.3 points; standard deviation: 7), though preschool scores were on average lower than school‐age scores. Most children (88%) were classified below the cutoff on both forms, and overall concordance was high (92%). However, discordance was higher in cohorts following younger siblings of autistic children (16%). Proportions of children with an autism diagnoses were also higher among those with discordant scores (27%) than among those with concordant scores (4%). Our findings indicate SRS scores are broadly reproducible across preschool and school‐age forms, particularly for capturing broader, nonclinical traits, but also suggest that greater variability of autism‐related traits in preschool‐age children may reduce reliability with later school‐age scores for those in the clinical range.
... The inter-rater reliability was good to excellent (k from 0.95 to 0.67) for the distinction between PDD and non-PDD. However, the disentanglement of different subtypes of PDD was much less reliable (k from 0.18 to 0.65) (25)(26)(27). The DSM-IV-TR criteria were therefore more successful in differentiating PDD (25) from other psychiatric disorders than in distinguishing between the three main subtypes of PDD, namely AD, PDD-NOS and AS (28). ...
... Longitudinal studies showed lower diagnosis stability in PDD-NOS than in AD (27,(96)(97)(98)(99) with the exception of Chawaska et al. study (100) ( Table 5). As a whole, autistic symptoms were lower in the PDD-NOS group than in the AD group (96, 101) ( Table 5). ...
Introduction
Autism Spectrum Disorder (ASD) diagnosis is relatively consensual in typical forms. The margins of the spectrum and their degree of extension, however, are controversial. This has far-reaching implications, which extend beyond theoretical considerations: first, peripheral forms of autism are more prevalent than central forms; second, we do not know how relevant typical-targeted recommendations are for atypical forms. In DSM-IV-TR, these margins of autism were studied within the category of Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). In spite of its low reliability, this former diagnosis was of particular interest to shed light on the gray area of margins. The aim of this systematic is therefore to investigate the clinical characteristics of PDD-NOS in comparison with Autistic Disorder.
Method
A stepwise systematic PRISMA literature review was conducted by searching PubMed and Web Of Science databases to select corresponding studies.
Results
The systematic review included 81 studies comprising 6,644 children with PDD-NOS. Cross-sectional and longitudinal studies comparing PDD-NOS and AD showed that PDD-NOS corresponds to milder form of autism with less impact and less associated disorder, with the exception of schizophrenia and mood disorder.
Discussion
Our review challenges initial views of PDD-NOS, and shows the clinical relevance of this diagnosis when dealing with the margins of autism, and the de facto diversity included in the spectrum. However, in view of the many limitations of PDD-NOS (low reliability, instability through time, low acceptability), we suggest taxonomic changes in DSM-5: we introduce a new category based on three main dimensions related to socialization impairment, emotional lability and psychotic symptoms.
Conclusion
Our review argues for a distinction between AD and PDD-NOS on clinical characteristics and thus highlights the need to study the margins of autism. While the limitations of the PDD-NOS category made it irrelevant to investigate these margins from a research perspective, we believe that a multidimensional approach for mental health professionals taping socialization, emotion lability and psychotic symptoms would be interesting. Our review therefore encourage future studies to test relevant criteria for a new category and possibly identify developmental trajectories, specific interventions and treatments.
... Some studies have investigated inter-rater agreements between the assessments of individual clinicians (Gillberg et al., 1990;Lord, 1995;Lord et al., 2006;Stone et al., 1999;van Daalen et al., 2009), with agreements ranging from 87% to 100% for an autism spectrum diagnosis (however, all included children under the age of three). When excluding assessments that were potentially confounded by the evaluators either basing their diagnosis on the same clinical information, or having access to past medical and treatment histories (i.e. ...
Autism Spectrum Disorder (ASD) is an umbrella term for a group of neurodevelopmental disorders (NDD) which are behaviorally defined by the presence of difficulties with social communication, and behavioral rigidity and repetitiveness, including sensory disturbances. The overarching aim of this thesis was to improve the categorization of autism through the development of a theoretical framework and a multivariable classification method, and identify biomarkers which together would aid in the understanding of autism and be used in ASD classification.
Paper I presents a theoretical framework for the pathogenesis of ASD and other NDDs. The framework conceptualizes and operationalizes a three-factor model: (1) a disorder personality type that is specific for each NDD diagnostic category, but extends across the threshold for diagnosis and is not maladaptive in and of itself; (2) cognitive capacity as the ability of the individual to compensate for issues that may arise from of a “pronounced” personality type; (3) neuropathological burden which is conceptualized as the inhibition of neural and cognitive development resulting from the presence of neurodevelopmental risk factors. It is concluded that such a framework may contribute to an improved understanding of pathogenetic mechanisms underlying NDDs, including ASD.
Papers II-IV are based on a structural and functional brain imaging study of a group of adult males with ASD, and an age- and IQ-matched group of neurotypical controls. Paper II is a morphometric study that presents a multivariable classification method which showed up to 79% accuracy for diagnostic status, and outperformed machine learning algorithms on the same dataset. Paper III investigated the magnetoencephalographic source space activation in the right fusiform gyrus in response to faces and face-like objects and found only late post-stimulus group differences, potentially relating to differences in top-down cognitive mechanisms. Paper IV compared the change in occipital magnetoencephalographic power in the gamma range in response to moving stimuli and showed a relationship with self-reported sensory sensitivity across both the ASD and control groups.
In summary, the thesis presents a theoretical framework that proposes pathogenetic mechanisms for ASD and other NDDs, a simple classification method for multivariable categorization using quantitative data, and biomarkers for face processing and sensory sensitivity.
... Better specification of the clinical decision process may increase the reliability and validity of the ASD diagnosis for clinical and research purposes. While there is evidence on the stability of early research-based autism spectrum diagnoses, there is conflicting evidence of community clinician agreement on these diagnoses (Daniels et al., 2011;Hausman-Kedem et al., 2018;van Daalen et al., 2009;Wiggins et al., 2020). At the same time, little is known about how clinicians apply Content courtesy of Springer Nature, terms of use apply. ...
This paper describes a process to define a comprehensive list of exemplars for seven core Diagnostic and Statistical Manual (DSM) diagnostic criteria for autism spectrum disorder (ASD), and report on interrater reliability in applying these exemplars to determine ASD case classification. Clinicians completed an iterative process to map specific exemplars from the CDC Autism and Developmental Disabilities Monitoring (ADDM) Network criteria for ASD surveillance, DSM-5 text, and diagnostic assessments to each of the core DSM-5 ASD criteria. Clinicians applied the diagnostic exemplars to child behavioral descriptions in existing evaluation records to establish initial reliability standards and then for blinded clinician review in one site (phase 1) and for two ADDM Network surveillance years (phase 2). Interrater reliability for each of the DSM-5 diagnostic categories and overall ASD classification was high (defined as very good .60–.79 to excellent ≥ .80 Kappa values) across sex, race/ethnicity, and cognitive levels for both phases. Classification of DSM-5 ASD by mapping specific exemplars from evaluation records by a diverse group of clinician raters is feasible and reliable. This framework provides confidence in the consistency of prevalence classifications of ASD and may be further applied to improve consistency of ASD diagnoses in clinical settings.
... Prompt diagnoses are critical for ensuring that children and families receive behavioral interventions shown to improve long-term outcomes in ASD (Green et al., 2015(Green et al., , 2017Landa, 2018;Noyes-Grosser et al., 2018), but many children experience significant delays between the onset of measurable autism symptoms and formal diagnosis. For example, while infants later diagnosed with ASD demonstrate behavioral differences as early as 6 months of age (Estes et al., 2015;Landa, 2007;Zwaigenbaum et al., 2007), and can be reliably diagnosed by age two (Kleinman et al., 2008;van Daalen et al., 2009), the median age of diagnosis in the United States remains over 4 years (Maenner et al., 2020). Disparities in age at diagnosis highlights the need for novel and objective methods for quantifying early risk that could help inform providers. ...
Infant vocalizations are early‐emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)‐ and high (HR)‐risk for ASD (HR‐ASD = 23, female = 3; HR‐Neg = 35, female = 13; LR = 32, female = 10; 80% White; collected from 2007 to 2017 near Philadelphia) were analyzed at 6, 12, and 24 months. At 12 months, HR‐ASD infants produced fewer vocalizations than HR‐Neg infants. From 6 to 24 months, HR‐Neg infants demonstrated steeper vocalization growth compared to HR‐ASD and LR infants. Finally, among HR infants, vocalizing at 12 months was associated with language, social phenotype, and diagnosis at age 2. Infant vocalizing is an objective behavioral marker that could facilitate earlier detection of ASD.
... Daarnaast laat onderzoek zien dat de stabiliteit van de klinische diagnose op 2-jarige leeftijd hoog is [7,8]. Ook onderzoek in Nederland geeft aan dat vroege opsporing voor het derde levensjaar mogelijk is [9,10]. Desondanks worden veel kinderen pas opgespoord als ze al op school zitten, waardoor ze niet volledig gebruik kunnen maken van hun ontwikkelingspotentieel [11]. ...
Inleiding: In de Jeugdgezondheidszorg (JGZ)-richtlijn Autismespectrumstoornissen (ASS) zijn op basis van expert-opinion zeven ontwikkelingskenmerken uit het Van Wiechen-onderzoek aangeduid als alarmsignalen voor ASS. Dit onderzoek had als doel de criteriumvaliditeit van deze kenmerken vast te stellen. Methode: In de periode 2009–2013 werden de zeven alarmsignalen verzameld uit de dossiers van de JGZ bij 197 kinderen met ASS (cases) en bij 197 controles, waarbij gematcht werd op geslacht. We gingen na wat de sensitiviteit, specificiteit en diagnostische oddsratio (DOR) van deze alarmsignalen zijn. De gegevensverzameling vond plaats voor de aanpassing van de JGZ-richtlijn in 2015 en daarom kon alleen de criteriumvaliditeit van de oorspronkelijke formulering van de alarmsignalen worden nagegaan. Resultaten: Uitgaande van alle kinderen was de DOR niet statistisch significant bij drie van de zeven alarmsignalen. Dit betekent dat we van drie alarmsignalen niet konden aantonen dat ze in staat zijn een onderscheid te maken tussen cases en controles. Bij zes alarmsignalen was de specificiteit 96–100% en de sensitiviteit 0–27%. Bij één alarmsignaal was de sensitiviteit 42% en de specificiteit 85%. Conclusie: Uitgaande van de oorspronkelijke formulering van de kenmerken zijn de alarmsignalen niet geschikt voor het opsporen van voldoende kinderen met ASS. Vervolgonderzoek is nodig om de nieuwe formulering van de alarmsignalen te valideren en na te gaan of andere (combinaties van) kenmerken uit het Van Wiechen-onderzoek wel kunnen bijdragen aan de vroegsignalering van ASS.
... Yet, recent studies have reported a small subset of children, sometimes referred to as the "optimal outcome" group, who show improvement over time, often in the context of intervention, and subsequently no longer meet criteria for the diagnosis at follow-up (Fein et al. 2013). Of note, initial diagnoses received in very early childhood (i.e., at or below 30 months of age) have been found to be less stable over time (Helt et al. 2008;Turner and Stone 2007;Turner et al. 2006; van Daalen et al. 2009;Wiggins et al. 2012). The question of stability of ASD, defined as the likelihood that a child will meet criteria for the diagnosis at follow-up (Charman and Baird 2002), has become an increasingly active focus of research and is particularly relevant to scientific and clinical issues regarding prevalence, utility, and cost of early intervention (EI), families' experience of the diagnosis, and developmental trajectories of the symptoms (Cox et al. 1999;Lord and Bishop 2010;Mahli and Singhi 2011;Ozonoff et al. 2015;Woolfenden et al. 2012). ...
... To date, studies have published stability rates of diagnoses made in early childhood that range widely and vary significantly across DSM-IV-TR category (i.e., 63-100% stability for AD, 17-100% for PDD-NOS, and 82-100% for dichotomized ASD outcomes) (Ben Itzchak and Zachor 2009;Bieleninik et al. 2017;Chawarska et al. 2007Chawarska et al. , 2009Corsello et al. 2013;Kleinman et al. 2008;Mahli and Singhi 2011). Likewise, estimates of stability of cognitive functioning and symptom severity broadly vary, with a myriad of associated factors, including age of initial diagnosis (e.g., Sutera et al. 2007;Turner and Stone 2007), symptom severity (e.g., Fein et al. 2013;Lord et al. 2006) and cognitive abilities at initial diagnosis (e.g., Turner and Stone 2007;van Daalen et al. 2009), and receipt of EI services (Dawson et al. 2010;Helt et al. 2008). ...
... There are particularly mixed findings within this area of research, especially regarding initial language abilities. Several studies have found that children who no longer met criteria for ASD diagnoses were more likely to have higher receptive and expressive language scores at initial evaluation (Turner and Stone 2007;van Daalen et al. 2009), whereas other studies have not found group differences in this area (Sutera et al. 2007;Turner et al. 2006). Additionally, several studies have found group differences in motor skills, measured by both standardized assessment and caregiver-report (Turner and Stone 2007;Sutera et al. 2007), perhaps suggesting that developed motor skills are a sign of a positive prognosis. ...
Determining diagnostic stability of ASD, as well stability of functioning in early childhood, is relevant to prevalence, best practices for communicating early ASD diagnoses to caregivers, families’ experiences, and developmental trajectories. Generalizability of findings from prior research has been limited by small and homogenous samples, short follow-up time intervals, and inconsistent diagnostic procedures. This report presents follow-up evaluations of 60 children (86.7% male, mean age: 51.3 months) with diverse backgrounds (79.7% racial/ethnic minorities) who received initial ASD diagnoses before 36 months of age (mean age: 27 months). Fifty-three children (88.3%) met diagnostic criteria for ASD at follow-up, a proportion consistent with previous studies. On average, children demonstrated significant cognitive gains and ASD symptom improvement. Clinical implications of findings are discussed.
... Two symptom dimensions, deficits in social communication/interaction (SCI) and the presence of restricted/repetitive behaviors (RRBs), are the core features of the disorder (American Psychiatric Association 2013). The ASD diagnosis has high interrater reliability (van Daalen et al. 2009;Lord et al. 2012) and temporal stability (Lord et al. 2006;Chawarska et al. 2009;van Daalen et al. 2009), with only a small percentage of cases identified in early childhood no longer meeting diagnostic criteria in later childhood, adolescence, or adulthood (Billstedt et al. 2005;Fein et al. 2013). Yet, individual behavioral presentations are highly variable (Eaves and Ho 2008) and largely driven by cognitive level, which can range from severely impaired to very superior ability. ...
... Two symptom dimensions, deficits in social communication/interaction (SCI) and the presence of restricted/repetitive behaviors (RRBs), are the core features of the disorder (American Psychiatric Association 2013). The ASD diagnosis has high interrater reliability (van Daalen et al. 2009;Lord et al. 2012) and temporal stability (Lord et al. 2006;Chawarska et al. 2009;van Daalen et al. 2009), with only a small percentage of cases identified in early childhood no longer meeting diagnostic criteria in later childhood, adolescence, or adulthood (Billstedt et al. 2005;Fein et al. 2013). Yet, individual behavioral presentations are highly variable (Eaves and Ho 2008) and largely driven by cognitive level, which can range from severely impaired to very superior ability. ...
This review examines our current understanding of autism spectrum disorder (ASD), its prevalence, impact, behavioral treatment, and outcomes. Building on this knowledge, ASD associated with PTEN mutations is introduced and recent human studies of neurobehavioral and neuroimaging findings in patients with PTEN mutations with and without ASD are reviewed. In doing so, we present evidence supporting a model of PTEN loss leading to neurobehavioral deficits, including ASD and intellectual disability. Next, we describe the neurobehavioral spectrum observed across PTEN mutation cases, adding specificity where possible, based on data from recent studies of child and adult PTEN patients. Finally, we end with a discussion of potential clinical recommendations for improving interventions and supports for people with PTEN-ASD and future research avenues for understanding and treating the functional and cognitive deficits in PTEN-ASD.
... The sensitivity for ASD and the specificity to distinguish normal from abnormal behaviour (including ASD and ADHD) were both high. The reliability and validity was also described in another previous study (Van Daalen et al. 2009). This questionnaire, administered when the child was 14 months old, consists of 14 items with "yes" (1) and "no" (0) answers. ...
This longitudinal study focused on early behavioural problems and autistic traits. In a stratified, population-derived sample of 119 children, mothers reported through questionnaires on externalizing, internalizing, and social-communicative characteristics of their child in infancy (14 months) and toddlerhood (37 months), and on autistic traits at preschool age (4–5 years). Children with consistently normal behaviour from infancy to toddlerhood showed lower autistic traits at preschool age than children with deviant behaviour on one or both time points. High autistic traits at preschool age were predominantly preceded by problems in interaction, communication, language, play, and affect in infancy and/or toddlerhood, but also by inattention in toddlerhood. Adequate support and specific interventions in these domains are needed in an attempt to diminish further derailment of the child’s behaviour and development, and to prevent the full manifestation of ASD or related disorders such as ADHD.
